A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952515



Internal ID20024455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:85608458..85639161hg38UCSC Ensembl
chr14:86074802..86105505hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3830704
hg1930704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4221139
Supporting Variants
Samples
Known GenesFLRT2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15952515
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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